Sugi Variant

Sugi Variant/DYSF

DYSF — 4324 ClinVar variants

All ClinVar germline DYSF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1207 flagged for review →

457 Pathogenic · 87 Pathogenic/Likely pathogenic · 341 Likely pathogenic · 380 Conflicting · 187 Benign · 32 Benign/Likely benign · 1719 Likely benign · 1121 Uncertain significance

Full DYSF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1207

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 120

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 610

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 610

Predictors split 472

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 472

All DYSF variants

Pathogenic 457

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1003-3C>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1033+1G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1149+1G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1149+1G>C Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1149+4A>G Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1149+5G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1267_1276+4dup Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1276+5G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1276+5G>C Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1450-1G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1481-1G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1493+2dup Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1577-1655C>G Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1693-6T>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.2217-2A>G Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.240-159_345+1237del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.2697+1G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.2697+1G>C Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.2697+5G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.2864+1G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.2864+5G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.2865-20T>G Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.2865-2A>C Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.3085+2T>C Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.345+1del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.3756+905_3897+151del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.460+2T>G Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.5003+1249G>T Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.5174+5G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.5458-2A>C Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.5546+1G>T Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.5643-1G>A Expert panel limb-girdle muscular dystrophy
  • c.5785-7G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.5785-824C>T Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.5885-51_6063+50del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.759+1G>C Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.92-1496_239+950del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.951+1del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ala2105Thr Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Ala927Leufs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1056Gln Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1056Pro Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1056Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1057Leu Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1057Trp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1058Trp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1064His Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1625Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1732Gln Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg1732Trp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1759fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1807Gln Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1807Trp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1849Lys Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg1944Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg2081Cys Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg236Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg285Trp Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg409Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg573Trp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg90Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg977Trp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asn44fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp1181fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp1255fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp1876Asn Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp320fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp320Val Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp422Asn Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Asp497fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Cys1717Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Cys1717Tyr Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Cys1854Phe Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Cys488Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln112Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln1296Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln1382Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln1428Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln1488Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln1608Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln1721Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln1823Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln1985fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln253Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln425Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln623Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln630Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln709Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln756Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu1143fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu1353Lys Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu1472Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu1576fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu1663fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu1766fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu1805Lys Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu1993Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu2033fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu782Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly1029Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly1667Val Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly1904fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly2006fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly210fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly266Glu Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly331Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly331Trp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly537Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly636Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly639Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.His1896Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.His711fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ile1036Hisfs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Leu1092fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Leu1359Pro Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Leu354Pro Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Leu480Pro Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Leu574_Leu575insVal Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Leu574Pro Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Leu668fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Lys1169Glnfs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Lys37fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Lys459fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Lys921fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Met1874Val Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Met2112Val Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Phe1128fs Expert panel limb-girdle muscular dystrophy
  • p.Phe1538fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Phe1713fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Phe299fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Phe451fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ser1191fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ser1939fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ser372Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ser390fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Thr284Met Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Thr851fs Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Trp1010Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Trp1060Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Trp1882Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Trp948Cys Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Trp983Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Tyr1032Cys Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Tyr1166_Gly1167delinsTer Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Tyr1177Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Tyr1224Ter Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Val1879Met Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Val318Glu Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Val70Gly Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1276_1276+7del Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1277-2A>C Multiple submitters Miyoshi muscular dystrophy 1
  • c.1380+2T>C Multiple submitters DYSF-related disorder
  • c.147+1G>A Multiple submitters distal myopathy with anterior tibial onset
  • c.1576+1del Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1642del Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1642dup Multiple submitters
  • c.1692+1G>C Multiple submitters Miyoshi muscular dystrophy 1
  • c.2217-1G>T Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2406_2409+1del Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • c.2409+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • c.2864+1G>C Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3403-2A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • c.345+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.4059+1G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4221+1G>T Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5458-1G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.888+2T>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala365fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg1845fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Arg1860Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg334fs Multiple submitters Miyoshi muscular dystrophy 1
  • p.Asp327fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Cys1416Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln1178Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Gln1219Ter Multiple submitters Miyoshi muscular dystrophy 1
  • p.Gln1341Ter Multiple submitters DYSF-related disorder
  • p.Gln1795Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln1921Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln1965Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln208Ter Multiple submitters Miyoshi muscular dystrophy 1
  • p.Gln473Ter Multiple submitters Miyoshi muscular dystrophy 1
  • p.Gln717Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln789Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln825Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Gln850Ter Multiple submitters DYSF-related disorder
  • p.Gln975fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln975Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu1039fs Multiple submitters Miyoshi muscular dystrophy 1
  • p.Glu1100Ter Multiple submitters Miyoshi muscular dystrophy 1
  • p.Glu1287Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu1526Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu1872Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu1920fs Multiple submitters Miyoshi muscular dystrophy 1
  • p.Glu193fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu2047Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu308fs Multiple submitters Miyoshi muscular dystrophy 1
  • p.His964fs Multiple submitters Miyoshi muscular dystrophy 1
  • p.Ile1262fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ile1419fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Ile58fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu1068fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu298fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu60fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Lys1121Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Lys1141fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Lys1648fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Lys1980Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Lys905Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Met1601fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Met986fs Multiple submitters distal myopathy with anterior tibial onset
  • p.Phe1190_Ser1191insTer Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Phe972fs Multiple submitters Miyoshi muscular dystrophy 1
  • p.Ser1189fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ser515Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Trp1017Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Trp1095Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Trp1275Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Trp1517Ter Multiple submitters Miyoshi muscular dystrophy 1
  • p.Trp352Ter Multiple submitters Miyoshi muscular dystrophy 1
  • p.Trp498Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Trp53Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Tyr1247Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Tyr1451Ter Multiple submitters Miyoshi muscular dystrophy 1
  • p.Tyr604Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Val119fs Multiple submitters Miyoshi muscular dystrophy 1
  • p.Val526Leu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.1263_1276+1dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.1276+1G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1276+2T>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1277-2A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1380+1G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1450-3_1450-2del Single submitter
  • c.148-1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1493+1G>C Single submitter
  • c.1493+5G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1494-2A>G Single submitter
  • c.1576+1G>A Single submitter
  • c.1577-2A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1692+1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1692+2T>A Single submitter
  • c.1984+2T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1985-2A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.239+1G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2409+2T>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.2566-1495_3202del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2566-1496_3203del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2864+2T>A Single submitter
  • c.2865-2A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3228+1G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.345+1G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.345+1G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.345+2T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3496+1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3575-1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3575-2A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3897+1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3897+1G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4221+1G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5156_5174+4dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.5174+1G>A Single submitter
  • c.5642+3A>G Single submitter Miyoshi muscular dystrophy 1
  • c.6063+1G>A Single submitter
  • c.6174-2A>C Single submitter DYSF-related disorder
  • c.94del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.951+2T>G Single submitter
  • p.Ala1184fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Ala130fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala407fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala595fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala829fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg1280fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg1393fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg1620fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg1853fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg219fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg500_Leu501insTer Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg571fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg826fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asn1211fs Single submitter Abnormality of the musculature
  • p.Asn1397fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asn290fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asn471fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp1479delinsPhePheXaaXaaXaaXaaPheSerArgAspGlyLeuAspLeuLeuThrSerTer Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp1690fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp1894fs Single submitter Miyoshi muscular dystrophy 1
  • p.Asp1915fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp505fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Cys1006_Pro1007delinsTer Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Cys1162fs Single submitter
  • p.Cys1448_Asp1449delinsTer Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Cys1530Ter Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Cys842fs Single submitter Absent muscle fiber dysferlin
  • p.Gln1028Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Gln1219fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Gln121fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln121Ter Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln1283Ter Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln1348Ter Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln1382fs Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Pathogenic/Likely pathogenic 87

  • c.1002+4A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.1003-1G>A Multiple submitters Miyoshi muscular dystrophy 1
  • c.1033+2T>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.1149+3G>C Multiple submitters Miyoshi muscular dystrophy 1
  • c.1264_1276+1dup Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.1381-2A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • c.148-2A>G Multiple submitters Miyoshi muscular dystrophy 1
  • c.1494-1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • c.1985-1G>T Multiple submitters Miyoshi muscular dystrophy 1
  • c.1985-2del Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3085+1G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3228+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.3575-1G>C Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3757-2A>G Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.460+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.4756-1G>A Multiple submitters Miyoshi muscular dystrophy 1
  • c.4911+1G>T Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5004-1G>A Multiple submitters Miyoshi muscular dystrophy 1
  • c.5317+1G>A Multiple submitters distal myopathy with anterior tibial onset
  • c.5546+2T>A Multiple submitters Miyoshi muscular dystrophy 1
  • c.5547-1G>C Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5547-2A>G Multiple submitters distal myopathy with anterior tibial onset
  • c.5642+1G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5884+1G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.754_759+5del Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • c.889-2A>G Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala116fs Multiple submitters distal myopathy with anterior tibial onset
  • p.Ala420fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg1173fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg1360Gly Multiple submitters Miyoshi muscular dystrophy 1
  • p.Arg1749fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg1944fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp2056fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Asp810fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Cys1379Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Cys1660Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Gln1311Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln1331Ter Multiple submitters Miyoshi muscular dystrophy 1
  • p.Gln1385Ter Multiple submitters Miyoshi muscular dystrophy 1
  • p.Gln1730Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln1734fs Multiple submitters Miyoshi muscular dystrophy 1
  • p.Gln1734Ter Multiple submitters Autosomal recessive DYSF-related disorders
  • p.Gln2001Ter Multiple submitters Miyoshi muscular dystrophy 1
  • p.Gln588Ter Multiple submitters Miyoshi muscular dystrophy 1
  • p.Gln869Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu1085fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu1085Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu1131Ter Multiple submitters distal myopathy with anterior tibial onset
  • p.Glu1616fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu1771Ter Multiple submitters Miyoshi muscular dystrophy 1
  • p.Glu296Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu381Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu421fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu996Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gly1436Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Gly188fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Gly458Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Gly963fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.His2036fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Ile1590fs Multiple submitters Miyoshi muscular dystrophy 1
  • p.Leu1557fs Multiple submitters Miyoshi muscular dystrophy 1
  • p.Leu2020fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu373fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu533fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Lys1394fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Lys444Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Met1128Ilefs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Met1Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Phe1906Leu Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Phe876fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro2009Ser Multiple submitters Miyoshi muscular dystrophy 1
  • p.Ser1282fs Multiple submitters Miyoshi muscular dystrophy 1
  • p.Ser1652fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ser398fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Ser513fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Thr1685delinsIleCysLeuTrpArgArgThrTer Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Trp1012Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Trp1017Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Trp1217Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Trp2079Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Trp2084Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Trp875Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Tyr1166Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Tyr1641Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Tyr856Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Tyr8Ter Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Val1922fs Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Likely pathogenic 341

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1033+4A>T Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1033+5G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1274_1276+4dup Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.3228+1G>C Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.4911+1G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.5174+5G>T Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.5643-7T>G Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.5885-1G>C Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.6064-1G>C Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.888+1G>A Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1059Cys Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1360Trp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Cys1174Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gln253His Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Glu421Lys Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly1820Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly1904Asp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly2042Asp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly367Ala Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly367Asp Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Leu298Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Lys1519Thr Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Pro1737Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Pro1737Leu Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Pro1974Leu Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Pro2052Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Pro809Arg Expert panel limb-girdle muscular dystrophy
  • p.Ser1711Phe Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ser1726Pro Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ser321Pro Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Thr284Ala Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Thr899Pro Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Tyr1916His Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1002+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.1272_1276+3dup Multiple submitters Miyoshi muscular dystrophy 1
  • c.1276_1276+3del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.1522+1G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2109+1G>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.240-2del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.3085+1G>T Multiple submitters Miyoshi muscular dystrophy 1
  • c.3957+2T>G Multiple submitters Miyoshi muscular dystrophy 1
  • c.4387+2T>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.4387+2T>C Multiple submitters distal myopathy with anterior tibial onset
  • c.4528-2A>G Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4528-2del Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4755+1G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.5174+2T>C Multiple submitters Miyoshi muscular dystrophy 1
  • c.5784+1G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5785-1G>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.5885-1G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.6173+1G>A Multiple submitters Miyoshi muscular dystrophy 1
  • c.6321+1G>C Multiple submitters distal myopathy with anterior tibial onset
  • p.Arg1807Pro Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg492del Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln1948Ter Multiple submitters Miyoshi muscular dystrophy 1
  • p.Gln2001fs Multiple submitters Miyoshi muscular dystrophy 1
  • p.Glu1031Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Glu771Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Ile1599fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Ile1884fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Leu376Pro Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro144fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Trp1112Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy
  • p.Val1754_Tyr1755insTer Multiple submitters Miyoshi muscular dystrophy 1
  • c.1002+1G>C Single submitter
  • c.1003-2A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1150-2A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.1150-38_1155del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.1150-42_1155del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1150-43_1155delinsA Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1381-2del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1399dupG Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.1449+1G>A Single submitter Miyoshi muscular dystrophy 1
  • c.1481-1G>T Single submitter
  • c.1493+1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1493+1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.1494-1G>C Single submitter Miyoshi muscular dystrophy 1
  • c.1577-21_1586delinsGGCTT Single submitter Miyoshi muscular dystrophy 1
  • c.1806+1G>T Single submitter Miyoshi muscular dystrophy 1
  • c.1806+2T>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.1806+2T>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1807-2A>G Single submitter Miyoshi muscular dystrophy 1
  • c.1984+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.1984+2T>A Single submitter Miyoshi muscular dystrophy 1
  • c.2110-1G>A Single submitter Miyoshi muscular dystrophy 1
  • c.2110-2A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.2217-1G>A Single submitter Miyoshi muscular dystrophy 1
  • c.240-2A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2409+1G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2410-1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.2410-2A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2697+1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.2697+5G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2865-1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2980-1G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3086-11_3105dup Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.3086-2A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3228+2T>C Single submitter Miyoshi muscular dystrophy 1
  • c.3229-1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3402+1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3403-109_3436del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.346-2A>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.346-2A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3574+1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3898-1G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3898-2A>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3927+1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3928-2A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3958-1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4221+5del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.4387+1G>T Single submitter
  • c.4387+2T>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4388-2A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.4528-2A>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.460+2_460+3del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4626+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.4755+2T>C Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.5004-2A>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5004-2A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5175-1G>A Single submitter Miyoshi muscular dystrophy 1
  • c.5175-2A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5318-1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.5318-2A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.5458-2A>G Single submitter Miyoshi muscular dystrophy 1
  • c.5458-2A>T Single submitter DYSF-related disorder
  • c.5546+1G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5642_5642+12del Single submitter Miyoshi muscular dystrophy 1
  • c.5642+2T>A Single submitter Miyoshi muscular dystrophy 1
  • c.5643-2A>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5785-2A>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5785-2A>T Single submitter DYSF-related disorder
  • c.6064-1G>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.6173+2del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.6322-1G>C Single submitter DYSF-related disorder
  • c.760-2A>G Single submitter Miyoshi muscular dystrophy 1
  • c.88+1G>A Single submitter Miyoshi muscular dystrophy 1
  • c.92-1G>A Single submitter
  • c.951+2T>C Single submitter Miyoshi muscular dystrophy 1
  • c.952-2_952-1del Single submitter
  • c.952-2A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.997_1002+1delinsAAAA Single submitter Miyoshi muscular dystrophy 1
  • p.Ala1073fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Ala1752fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Ala2021fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Ala214fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Ala328fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Ala619fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1058fs Single submitter Miyoshi muscular dystrophy 1
  • p.Arg1064Ser Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg1625_Gly1628delinsTer Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Arg1732Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Arg1909fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Arg234fs Single submitter
  • p.Arg386Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Arg937fs Single submitter Miyoshi muscular dystrophy 1
  • p.Asn1562Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Asn542fs Single submitter Miyoshi muscular dystrophy 1
  • p.Asp108fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Asp1463fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Asp1876_Tyr1878delinsGluIlePhe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Asp1876Glu Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp1876His Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp1894Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp1953Gly Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp21fs Single submitter Miyoshi muscular dystrophy 1
  • p.Asp422Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Asp507fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Asp61fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Asp988fs Single submitter Miyoshi muscular dystrophy 1
  • p.Cys1854Ter Single submitter Miyoshi muscular dystrophy 1
  • p.Cys374fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Cys414fs Single submitter
  • p.Cys539Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Cys951Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Gln1070Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Gln1238Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Gln1283fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Gln1547fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Gln1630Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Gln1747Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Gln425fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Gln476Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Gln709fs Single submitter Miyoshi muscular dystrophy 1
  • p.Glu1005Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu1081Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu1120fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Glu1227Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu1444fs Single submitter Miyoshi muscular dystrophy 1
  • p.Glu161fs Single submitter Miyoshi muscular dystrophy 1
  • p.Glu1766Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu1770Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu1773fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Glu1773Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu1872fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Glu190Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Glu1920Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu2025fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu2037Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu2047fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu260Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu332fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu391Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu65Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu747Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu74fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Glu782fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu882Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Glu884Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Gly1084fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Gly1286Arg Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gly1436Arg Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Gly1460fs Single submitter Miyoshi muscular dystrophy 1
  • p.Gly1667Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Gly1718Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Gly1881Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Gly2044Asp Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gly266Ala Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly266Trp Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gly537Trp Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gly563fs Single submitter Miyoshi muscular dystrophy 1
  • p.Gly639Glu Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gly83Arg Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.His1055fs Single submitter Miyoshi muscular dystrophy 1
  • p.His412delinsArgLysCysTer Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Ile1352fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Ile1644fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Ile1698fs Single submitter
  • p.Ile286fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Ile316fs Single submitter Miyoshi muscular dystrophy 1
  • p.Ile735fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Ile745fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Leu106fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Leu1182fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Leu1359fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Leu1813fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Leu1998Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Leu423Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Leu461fs Single submitter Abnormality of the musculature
  • p.Leu543fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Lys1011Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys1043Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Lys1050Asn Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Lys1050Glu Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Lys1187Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys1205fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Lys1299fs Single submitter Abnormality of the musculature
  • p.Lys1299Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys1519Ile Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Lys1683fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys1712fs Single submitter
  • p.Lys1751Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys1765Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys1873Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys1880Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys1954fs Single submitter Miyoshi muscular dystrophy 1
  • p.Lys233Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys243Glu Single submitter ⚠
  • p.Lys248Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys40Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys844Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys855Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys860Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys883fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys892Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys928Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Lys933Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Met1146fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Met2112Arg Single submitter ⚠
  • p.Phe1223fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Phe1229fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Phe1513fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Phe1564fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Phe1666fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Phe1910Ser Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Phe2102Cys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Phe300fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Phe532fs Single submitter Miyoshi muscular dystrophy 1
  • p.Pro1038fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Pro1124fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Pro1271fs Single submitter Miyoshi muscular dystrophy 1
  • p.Pro137fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Pro1450fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Pro147fs Single submitter Abnormality of the musculature
  • p.Pro15fs Single submitter Miyoshi muscular dystrophy 1
  • p.Pro1780fs Single submitter
  • p.Pro1992fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Pro2052fs Single submitter Miyoshi muscular dystrophy 1
  • p.Pro520fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Pro784fs Single submitter
  • p.Pro809Gln Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ser101fs Single submitter
  • p.Ser1091fs Single submitter Miyoshi muscular dystrophy 1
  • p.Ser356Ter Single submitter Miyoshi muscular dystrophy 1
  • p.Ser680Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Ser879Ter Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Thr1150fs Single submitter
  • p.Thr1251_Tyr1252insTer Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Thr1977_Lys1979del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Thr216fs Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Thr510fs Single submitter

Conflicting classifications of pathogenicity 380

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1276+13C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1449+3G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1449+7C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1450-6C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1493+13T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-10T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1639G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1663G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1699C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1692+7C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1807-10C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1807-13T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1985-15G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1985-15G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1985-4C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2216+9dup Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2217-11G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.240-5C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.240-6T>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2409+14G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2864+8G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2865-7_2865-5del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2980-15C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3086-17G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3086-9C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3228+7C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3229-5T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3402+11C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3403-10G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.346-17C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3496+14C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3756+9G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3957+9G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4059+7C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4060-7T>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4222-8C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4464+7T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4528-5C>G Single submitter Miyoshi muscular dystrophy 1
  • c.4755+8C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4756-3C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5174+14G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5458-17G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5458-5C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.554-8C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5547-4C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5643-12A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5784+10C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5784+8T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5785-8C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.6174-8G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.6174-9C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.760-8G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.92-3T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.951+3_951+4del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.-327G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.*107T>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.*267C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.2087ILFI[3] Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala1024= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala1080Val Single submitter Inborn genetic diseases ⚠
  • p.Ala1082Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala1184= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala1346= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala1346Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala1453= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala1598Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1610= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala1611Thr Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala1715Ser Single submitter Miyoshi muscular dystrophy 1 ⚠
  • p.Ala202= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala202Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala2085Asp Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala2105Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala347= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala347Thr Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala429= Single submitter Miyoshi muscular dystrophy 1
  • p.Ala457= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala457Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala595Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala628Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala716Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala790= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala829Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala85Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala940= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala94Pro Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala962Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg1040Trp Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1059His Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1064Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg1102Cys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1102His Single submitter Inborn genetic diseases ⚠
  • p.Arg1111His Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1114His Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1115Cys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1169Cys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1173Cys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1260His Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1269Gln Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1269Trp Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1272Trp Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1315Gly Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1349His Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1360Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1393Trp Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1432Trp Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1441Cys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1620Cys Single submitter distal myopathy with anterior tibial onset ⚠
  • p.Arg1625Gln Single submitter DYSF-related disorder ⚠
  • p.Arg1716Cys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1716His Single submitter Inborn genetic diseases ⚠
  • p.Arg1736Cys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1736His Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1756Gln Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1756Trp Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1759Cys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1759His Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1788Cys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1788His Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1835Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg1853Cys Single submitter autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg1853His Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1898His Single submitter Inborn genetic diseases ⚠
  • p.Arg1909Ser Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1970Cys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg2039Gln Single submitter DYSF-related disorder ⚠
  • p.Arg2058= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg2058Lys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg2083Trp Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg224Cys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg285Gln Single submitter distal myopathy with anterior tibial onset ⚠
  • p.Arg402Gln Single submitter Miyoshi muscular dystrophy 1 ⚠
  • p.Arg419Gln Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg419Trp Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg494His Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg500Cys Single submitter Miyoshi muscular dystrophy 1 ⚠
  • p.Arg571Cys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg600Trp Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg657Cys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg702Gln Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg702Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg796His Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg798His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B ⚠
  • p.Arg826Gln Single submitter Miyoshi muscular dystrophy 1 ⚠
  • p.Arg836Trp Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg837Gln Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg837Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg865Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg977Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg977Pro Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asn103Ser Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asn1369Ser Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asn1635Ser Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asn268Thr Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asn295Lys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asn399= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asn443Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn44Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn672= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asn902= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asn994= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp1026Asn Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asp1026His Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asp1181Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp1463= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp1477Asn Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asp1480Asn Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asp16His Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asp1958Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp336= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp336Gly Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asp360= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp380= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp427= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp592Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp732Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp881Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp992Asn Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Cys1530= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Cys1717Ser Single submitter distal myopathy with anterior tibial onset ⚠
  • p.Cys2010Arg Single submitter Miyoshi muscular dystrophy 1 ⚠
  • p.Cys414Tyr Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Cys539Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B ⚠
  • p.Gln1459= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln1739Leu Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gln1797Glu Single submitter Inborn genetic diseases ⚠
  • p.Glu1005Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu1616= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu1696Lys Single submitter distal myopathy with anterior tibial onset ⚠
  • p.Glu1787= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu1872Lys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu189Lys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu201= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu559Gly Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu579= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu890Lys Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly1123Glu Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly1154Ser Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly1381= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gly1492Ser Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gly1820Glu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B ⚠
  • p.Gly231Arg Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly331Glu Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly410Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly458= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gly458Glu Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly552Ser Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly572= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gly671Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly698Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly77= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gly779Ser Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly891= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gly941Ser Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly981= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.His753Asn Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.His964= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ile1226= Single submitter Miyoshi muscular dystrophy 1
  • p.Ile1226Met Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile1295Leu Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile1343Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile1352Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile1485Met Single submitter Inborn genetic diseases ⚠
  • p.Ile1487= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ile1514= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ile1623Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile1644= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ile1646Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile1817= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ile2086Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile259= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ile437= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ile690Phe Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile735= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu106= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu1246Pro Single submitter Abnormality of the musculature ⚠
  • p.Leu1288Arg Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Leu1375= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu1475Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu1741= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu1743Phe Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Leu1809= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu2= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu302= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu330= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu703Val Single submitter Inborn genetic diseases ⚠
  • p.Leu778= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu800= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu82= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu854Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Leu874= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu93= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Lys1001Thr Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Lys1205Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys1529Met Single submitter Inborn genetic diseases ⚠
  • p.Lys1536Asn Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Lys1637= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Lys33Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys351= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Lys504Asn Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Met2050Val Single submitter Inborn genetic diseases ⚠
  • p.Met483Val Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Phe1107= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Phe1398Ser Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Phe1520= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Phe1670= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Phe1906Ile Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Phe1914= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Phe642= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro1037= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro1038Leu Single submitter Miyoshi muscular dystrophy 1 ⚠
  • p.Pro1047Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro113Ser Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro1232Leu Single submitter Miyoshi muscular dystrophy 1 ⚠
  • p.Pro126= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro126Leu Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro132Arg Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro135= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro1396= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro1418Ala Single submitter Miyoshi muscular dystrophy 1 ⚠
  • p.Pro1418Arg Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro1418Ser Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro144Gln Single submitter Inborn genetic diseases ⚠
  • p.Pro1594Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro1720Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2B ⚠
  • p.Pro1728Leu Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro1778Gln Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro1808= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro2060= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro2070= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro2107= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro212Leu Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro226Leu Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro230= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro249Leu Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro265Leu Single submitter DYSF-related disorder ⚠
  • p.Pro292Leu Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro378= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro383= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro389= Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Benign 187

Benign/Likely benign 32

  • c.1276+11C>T Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1635C>G Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1985-31C>A Multiple submitters
  • c.2110-43G>T Multiple submitters
  • c.2410-117A>G Multiple submitters Miyoshi muscular dystrophy 1
  • c.3228+205C>A Multiple submitters Miyoshi muscular dystrophy 1
  • c.3228+208A>C Multiple submitters Miyoshi muscular dystrophy 1
  • c.3229-31G>A Multiple submitters
  • c.3575-12C>T Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3757-12C>T Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.460+82C>T Multiple submitters Miyoshi muscular dystrophy 1
  • c.6321+15C>T Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.888+11T>C Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.951+39T>C Multiple submitters
  • c.951+4T>C Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.*199T>G Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala382Val Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala595= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg1113Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asn542= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp881Ala Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.His346= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ile635= Multiple submitters Miyoshi muscular dystrophy 1
  • p.Leu1686= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu221Val Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro132= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro222= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro952= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ser1374= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ser143= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ser807= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Val430Met Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠

Likely benign 1719

Showing the top 300 by review status; the full set is in the sitemap.

  • c.3898-4C>G Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Ala801Val Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Gln1341Glu Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Gly210Arg Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.His711= Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Lys1565Thr Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Lys674Glu Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Met644Thr Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Pro1038= Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Pro135Leu Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Pro147= Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Tyr1252= Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Val1543= Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1002+18A>G Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1033+43del Multiple submitters
  • c.1034-27A>G Multiple submitters
  • c.1149+7A>T Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1150-139G>A Multiple submitters
  • c.1380+67G>A Multiple submitters
  • c.1449+11T>C Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1450-15C>T Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1450-89C>T Multiple submitters
  • c.1577-1471T>A Multiple submitters
  • c.1577-1522T>G Multiple submitters
  • c.1577-1805A>G Multiple submitters
  • c.1577-1852G>A Multiple submitters
  • c.2216+59G>A Multiple submitters
  • c.239+14A>T Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.239+16G>C Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.239+8G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2566-46G>A Multiple submitters
  • c.3403-16A>G Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.345+8C>T Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.346-16G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.346-95C>T Multiple submitters
  • c.3496+114C>T Multiple submitters
  • c.3496+145A>G Multiple submitters
  • c.3496+174C>T Multiple submitters
  • c.3574+26C>G Multiple submitters
  • c.3928-189C>T Multiple submitters
  • c.3958-13C>G Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4387+16_4387+42del Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4527+141C>G Multiple submitters
  • c.4527+192A>G Multiple submitters
  • c.460+9C>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.4755+58A>G Multiple submitters
  • c.4756-38G>A Multiple submitters
  • c.4912-104C>T Multiple submitters
  • c.5003+28G>A Multiple submitters
  • c.5458-4G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.5642+64T>C Multiple submitters
  • c.88+12606A>C Multiple submitters
  • c.889-27A>G Multiple submitters
  • c.889-34C>T Multiple submitters Miyoshi muscular dystrophy 1
  • c.889-6C>T Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.*53G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala1290= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala772= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala829= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg1056= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Arg1970His Multiple submitters Inborn genetic diseases
  • p.Asn1550= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asn433= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp1491= Multiple submitters
  • p.Asp1695= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp924= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Cys1674= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gln1385= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu884= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Gly639= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.His1607= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.His1803= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ile2090= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Leu206= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Met1270Thr Multiple submitters Inborn genetic diseases
  • p.Phe1947= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Phe440= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro1042= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro1232= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro1801= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro249= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro265= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Pro828= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ser42= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Thr1122= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Thr1313= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Thr1350= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Thr1571= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Tyr1224= Multiple submitters Inborn genetic diseases
  • p.Tyr655= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Val38= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1002+13T>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1002+14T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1002+15T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1002+8C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1003-10T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1003-11A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1003-12C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1003-14C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1003-17C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1003-6T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1003-91A>G Single submitter
  • c.1033+11dup Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1033+15C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1033+22C>T Single submitter
  • c.1034-17G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1034-5C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1149+10T>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1149+16T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1149+17G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1149+19del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1149+19G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1149+301C>T Single submitter
  • c.1149+305A>G Single submitter
  • c.1149+55G>A Single submitter
  • c.1149+9A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1150-13G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1150-196C>T Single submitter
  • c.1150-20G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1276+10G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1276+12G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1276+12G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1276+14G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1276+15C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1276+172A>G Single submitter
  • c.1276+18T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1276+246C>T Single submitter
  • c.1276+48C>T Single submitter
  • c.1276+51A>G Single submitter
  • c.1276+9G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1276+9G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1277-14G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1277-17del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1277-18G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1277-203T>G Single submitter
  • c.1277-20T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1277-4C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1277-80C>T Single submitter
  • c.1380+12G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1380+13G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1380+17C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1380+20G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1380+8G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1380+8G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1380+9C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1380+9C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1381-12T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1381-19C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1381-20C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1449+11T>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1449+15C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1449+16C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1449+19_1449+35del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1449+7C>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1449+7C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1449+9C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1450-14T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1450-16T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1450-19G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1450-20C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1450-7T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.147+15C>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.147+20T>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.147+6dup Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.148-150_148-149insCCATCCATCCATCCATTCATCCAT Single submitter
  • c.148-172C>T Single submitter
  • c.148-17T>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.148-20C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.148-7del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.148-9T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1493+11A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1493+14C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1493+7del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1494-10C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1494-12C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1494-17C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1494-19C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1494-4C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1494-4C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1494-76G>A Single submitter
  • c.1494-7G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1494-9T>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1576+10C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1576+15C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1576+16G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1576+18T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1576+7T>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1576+8C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1576+9C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-11G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-124C>G Single submitter
  • c.1577-14C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-15A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1630G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1633T>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1633T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1633T>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1635C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1638T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1640T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1642G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1696T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1698del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1698G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1701T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-1706T>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-17C>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-17C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-199G>A Single submitter
  • c.1577-4C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-6T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-7C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1577-9G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1692+10C>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1692+13G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1692+13G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1692+15G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1692+16C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1692+206C>T Single submitter
  • c.1692+20G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1692+8G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1692+9G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1693-11C>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1693-11C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1693-12C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1693-14G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1693-15T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1693-164G>A Single submitter
  • c.1693-17C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1693-17C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1693-9C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1806+10G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1806+16C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1806+29G>A Single submitter
  • c.1806+7G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1806+7G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1806+8G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1806+9T>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1807-14C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1807-15A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1807-20G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1807-5C>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1807-7C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1807-9T>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1984+14C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1984+14C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1984+19C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1984+8A>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1984+9G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1985-16C>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1985-16C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1985-17C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1985-18C>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1985-18C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1985-195C>T Single submitter
  • c.1985-7A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.1985-8del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2109+11A>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2109+12C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2109+12C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2109+16C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2109+16C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2109+177T>C Single submitter
  • c.2110-10C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2110-10C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2110-11C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2110-11C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2110-12C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2110-15C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2110-5C>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2110-9A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2216+10A>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2216+11C>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2216+13T>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2216+16_2216+24del Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2216+17G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2216+19C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2216+20C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2216+7G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2216+8G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2216+9G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2216+9G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2217-12C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2217-15G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2217-15G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2217-17C>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2217-19A>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2217-20C>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2217-6T>G Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.239+15G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.239+15G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.239+15G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.239+16G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.239+16G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.239+17G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.239+17G>C Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.239+17G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.239+18G>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.239+20G>T Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.239+7T>A Single submitter neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Uncertain significance 1121

Showing the top 300 by review status; the full set is in the sitemap.

  • p.Ala2111_Met2112insTer Expert panel autosomal recessive limb-girdle muscular dystrophy
  • p.Arg1057Gln Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg1058Gln Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg419Pro Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Arg796Cys Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Asp1929Asn Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Gly1167Arg Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Gly1820Val Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Ile6Asn Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Leu1548Arg Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Pro1042Leu Expert panel autosomal recessive limb-girdle muscular dystrophy ⚠
  • p.Pro809Leu Expert panel limb-girdle muscular dystrophy ⚠
  • p.Ser1372del Expert panel autosomal recessive limb-girdle muscular dystrophy
  • c.1493+5G>A Multiple submitters
  • c.1976_1984+3dup Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2216+5G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2216+6G>C Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.2980-14G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3085+3G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3575-11G>A Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • c.3756+6T>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • c.6173+4A>C Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.2087ILFI[1] Multiple submitters Miyoshi muscular dystrophy 1
  • p.Ala100Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala1024Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1073Val Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala1133Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala116Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala1184Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala1453Val Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala1715Asp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala1930Gly Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala2012Val Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala2021= Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala238Val Multiple submitters ⚠
  • p.Ala278Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala407Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala429Val Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala614Val Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala705Asp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala736Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala829Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala85Asp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala864Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ala94_Ala100dup Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Ala94Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1062Cys Multiple submitters Miyoshi muscular dystrophy 1 ⚠
  • p.Arg1062His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1102Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1108Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1109Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1110Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1111Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1113Gly Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1113His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1115His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1169His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1180Trp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1260Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1393Gln Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1427Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1431Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1431His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1432Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1432Leu Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1441His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1568Trp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1835Gln Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1845Gln Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1845Trp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1909Lys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg1944Gln Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg2039Trp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg2045Trp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg2058Met Multiple submitters ⚠
  • p.Arg2059Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg2059His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg2080Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2081His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg236Gln Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg262His Multiple submitters distal myopathy with anterior tibial onset ⚠
  • p.Arg283Trp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg322Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg334Trp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg345Trp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg402Trp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg419Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg494Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg500His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg571His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg573Gln Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg607Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg608Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg762Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg762His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg798Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg821Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg821His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg826Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg865Gln Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Arg871Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg90Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg937His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1022Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1397Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1841Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asn1907Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B ⚠
  • p.Asn1969Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Asn290Lys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asn295Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asn471Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B ⚠
  • p.Asn504Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asn640Thr Multiple submitters Miyoshi muscular dystrophy 1 ⚠
  • p.Asn886Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1165His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1464Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1690Val Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1816Asn Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asp1827Glu Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asp1865Gly Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asp2056Glu Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asp247Asn Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asp336Ile Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Asp427Ala Multiple submitters ⚠
  • p.Asp643Asn Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asp701Asn Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Asp755Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp992Glu Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Cys1416Tyr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Cys1561Gly Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Cys1724Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Cys1854Arg Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Cys1923Phe Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gln1283His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gln1654Arg Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gln1746Glu Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B ⚠
  • p.Gln1823Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1015Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1031Gly Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu1225Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1227Lys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu1256Lys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu1312Gly Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu1510Lys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu1616Gly Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu1771Gln Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu1818Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu193Lys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu2047Lys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu441Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu453Gln Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin
  • p.Glu549Gly Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu802Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu898Lys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu901Ala Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Glu903Lys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly1029Ser Multiple submitters distal myopathy with anterior tibial onset ⚠
  • p.Gly1086Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1136Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly1154Asp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly1531Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly1569Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly1699Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly1902Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly1904Ala Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly289Arg Multiple submitters ⚠
  • p.Gly662Trp Multiple submitters distal myopathy with anterior tibial onset ⚠
  • p.Gly980Arg Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Gly995Arg Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.His1249Gln Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.His1303Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His1607Gln Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.His228Asn Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile1004Val Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile1242Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile1476Met Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile1514Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1524Val Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile1769Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile1772Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile1817Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1884Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile286Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ile316Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ile517Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1068Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1092Pro Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Leu1119Gln Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Leu1288Pro Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Leu1484Ile Multiple submitters ⚠
  • p.Leu1686Val Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Leu1741Pro Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Leu1794Phe Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Leu1828Pro Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Leu1864Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1998Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu2088Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B ⚠
  • p.Leu244Pro Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Leu245Pro Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Leu330Arg Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Leu917His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Lys1632Asn Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Lys33Arg Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Lys387Arg Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Lys444Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Lys564Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Lys777Arg Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Met1071Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Met2074Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met426Leu Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Met483Ile Multiple submitters Miyoshi muscular dystrophy 1 ⚠
  • p.Met644Ile Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Met644Val Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Met986Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Phe1153Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Phe1292Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Phe1713Leu Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Phe1713Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Phe2102Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1007Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1239Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1284Leu Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro1300Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1306Ala Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro1329Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1417Ser Multiple submitters ⚠
  • p.Pro1418His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro144Leu Multiple submitters Miyoshi muscular dystrophy 1 ⚠
  • p.Pro1450His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro1458Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1801Leu Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro1830Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1838Leu Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro1913Ala Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro1974Thr Multiple submitters ⚠
  • p.Pro2070Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro2107Leu Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro313Leu Multiple submitters ⚠
  • p.Pro424Leu Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro485Leu Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro496Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro547Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro804His Multiple submitters Inborn genetic diseases ⚠
  • p.Pro828Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro828Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Pro857Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1018Ala Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ser1320Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1523Tyr Multiple submitters distal myopathy with anterior tibial onset ⚠
  • p.Ser241Phe Multiple submitters ⚠
  • p.Ser321Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Ser321Phe Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ser463Ile Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ser515Trp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ser618Pro Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ser680Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ser725Trp Multiple submitters ⚠
  • p.Ser807Thr Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Ser97Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1054Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1054Arg Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Thr1122Met Multiple submitters DYSF-related disorder ⚠
  • p.Thr1220Met Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Thr138Ile Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Thr1546Ile Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Thr1757Pro Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Thr1843Ile Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Thr317Met Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Thr36Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr652Ala Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Thr75Met Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Thr943Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Thr955Ile Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Thr976Ala Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Trp1516Ser Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Trp1908Arg Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Trp2007Arg Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Trp2008Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B ⚠
  • p.Tyr1194Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr1365Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr1415Phe Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Tyr1415Ser Multiple submitters ⚠
  • p.Tyr1622Cys Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Tyr1755Phe Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Tyr1897His Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Val1197Ile Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Val1235Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val1244Gly Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Val1339Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val1376Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Val1435Met Multiple submitters distal myopathy with anterior tibial onset ⚠
  • p.Val1804Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val1862Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val1895Met Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Val275Phe Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Val43Gly Multiple submitters ⚠
  • p.Val448Ala Multiple submitters ⚠
  • p.Val4Gly Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Val812Asp Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠
  • p.Val925Ile Multiple submitters neuromuscular disease caused by qualitative or quantitative defects of dysferlin ⚠